Canonical Allele Identifier: CA695544

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 662264
• ClinVar RCV Id: RCV000819876 ; RCV002223254
• dbSNP Id: rs750383461
• ExAC: 1:25883729 C / CA
• gnomAD v2: 1-25883729-C-CA
• gnomAD v3: 1-25557238-C-CA
• gnomAD v4: 1-25557238-C-CA
• MyVariant Identifiers: chr1:g.25883729_25883730insA (hg19) ; chr1:g.25557238_25557239insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557239dup , CM000663.2:g.25557239dup	GRCh38
NC_000001.10:g.25883730dup , CM000663.1:g.25883730dup	GRCh37
NC_000001.9:g.25756317dup	NCBI36
NG_008932.1:g.18655dup , LRG_276:g.18655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.431dup MANE Select	ENSP00000363458.4:p.His144GlnfsTer27
ENST00000374338.4:c.431dup	ENSP00000363458.4:p.His144GlnfsTer27
ENST00000462394.1:n.179dup
ENST00000488127.1:n.901dup
NM_015627.2:c.431dup , LRG_276t1:c.431dup	NP_056442.2:p.His144GlnfsTer27
XM_006710559.2:c.431dup	XP_006710622.1:p.His144GlnfsTer27
XM_006710560.2:c.431dup	XP_006710623.1:p.His144GlnfsTer27
XM_006710561.2:c.431dup	XP_006710624.1:p.His144GlnfsTer27
XM_011541209.1:c.431dup	XP_011539511.1:p.His144GlnfsTer27
XM_011541210.1:c.431dup	XP_011539512.1:p.His144GlnfsTer27
XM_011541211.1:c.431dup	XP_011539513.1:p.His144GlnfsTer27
XM_011541212.1:c.431dup	XP_011539514.1:p.His144GlnfsTer27
XR_426598.2:n.550dup
XR_946602.1:n.550dup
XR_946603.1:n.550dup
XM_006710559.4:c.431dup	XP_006710622.1:p.His144GlnfsTer27
XM_006710560.4:c.431dup	XP_006710623.1:p.His144GlnfsTer27
XM_006710561.4:c.431dup	XP_006710624.1:p.His144GlnfsTer27
XM_011541209.3:c.431dup	XP_011539511.1:p.His144GlnfsTer27
XM_011541210.3:c.431dup	XP_011539512.1:p.His144GlnfsTer27
XM_011541211.3:c.431dup	XP_011539513.1:p.His144GlnfsTer27
XM_011541212.3:c.431dup	XP_011539514.1:p.His144GlnfsTer27
XM_017000994.2:c.350dup	XP_016856483.1:p.His117GlnfsTer27
XM_017000995.2:c.431dup	XP_016856484.1:p.His144GlnfsTer?
XM_024446315.1:c.296dup	XP_024302083.1:p.His99GlnfsTer27
XR_001737112.2:n.501dup
XR_001737113.2:n.501dup
XR_002956258.1:n.501dup
XR_426598.4:n.501dup
XR_946602.3:n.501dup
XR_946603.3:n.501dup
NM_015627.3:c.431dup MANE Select	NP_056442.2:p.His144GlnfsTer27